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- Title
MAKE A LONG STORY SHORT: IMPORTANCE OF GENETIC TESTING IN DIAGNOSIS OF LYNCH SYNDROME -- A CASE REPORT.
- Authors
Gombár, Anna; Burz, Claudia-Cristina
- Abstract
Introduction: Among diseases, cancer has the second highest mortality rate worldwide. Among cancers, colorectal cancer (CRC) is the third most diagnosed cancer and the second most common cause of cancer-related deaths worldwide. Hereditary non-polyposis CRC syndrome or Lynch syndrome (LS) accounts for 1%-3% of all CRC diagnoses. Knowledge of genetic susceptibility and a better understanding of the genotype/phenotype relationship in patients with LS is leading to more individualized surveillance recommendations. The aim of this paper is to emphasize the importance of genetic testing in the diagnostic process of hereditary CRCs, especially Lynch syndrome. Case Report: The present paper is a case report of a 55-year-old male patient who was diagnosed with synchronous CRC, presenting two different types of cancer appeared independently. One of the tumours was located proximally, at the level of transverse colon: a 5/4 cm cribriform adenocarcinoma pT3N0(0/15)M1aL0V1Pn0Ro stage IVA, the other one distally, at the level of sigmoid colon: a 7/6 cm mucinous adenocarcinoma pT3N2a(5+/18)M0L0V0Pn0Ro stage IIIB. The patient presented a 1.7/1/0.5 cm metastasis in the liver originated from the proximal tumour. Initially, a left hemicolectomy was performed. The immunohistochemical (IHC) profile, taken three weeks after the diagnosis, showed microsatellite instability with positive test for MLH1, PMS2 and MSH6 and Lynch syndrome was suspected. Repeated IHC test after six months showed positive test also for gene PMS2 which confirmed diagnosis of Lynch syndrome. Treatment included alternating different types of chemotherapy medicines and constant administration of Bevacizumab. Tumour markers decreased in a year: CA 19-9 from 106.5 U/ml to 59.13 U/ml and CEA from 74.76 U/ml to 29.08 U/ml. Pulmonary affection was observed due to treatment. Liver metastasectomy was performed. After two years the patient had cancer recurrence. Discussions : Molecular profiling of patients with LS has been shown to guide targeted therapies, such as immunotherapy. We mention that definitive surgical treatment for patients with LS is total colectomy which reduces the appearance of metachronous tumours. Specialists involved in the care of patients with CRC should be familiar with the main hereditary cancer syndromes and refer patients to specialized cancer genetic units for adequate genetic counseling. Conclusions: In conclusion, genetic testing has a key role in identification and management of patients with LS and other hereditary CRCs. Although hereditary CRCs represent a small part of CRC syndromes, healthcare providers should be conscious about them and the importance of their early diagnosis.
- Subjects
ROMANIA; THERAPEUTIC use of antineoplastic agents; DIAGNOSIS of hereditary nonpolyposis colorectal cancer; COLORECTAL cancer; CONFERENCES &; conventions; GENETIC testing
- Publication
Acta Marisiensis. Seria Medica, 2024, Vol 70, p241
- ISSN
2668-7755
- Publication type
Article